gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 25 Jan 2016.

Solute carrier family 12

KCC3, SLC12A6
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: KCC4, ACID, HAD, Rdl, V1a
Papers on KCC3
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
New
Orlacchio et al., Roma, Italy. In Brain, 31 Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
K-Cl cotransporters, cell volume homeostasis, and neurological disease.
New
Delpire et al., Boston, United States. In Trends Mol Med, Aug 2015
Genetic models of certain KCCs, such as KCC3, and their inhibitory WNK-STE20/SPS1-related proline/alanine-rich kinase (SPAK) serine-threonine kinases, have demonstrated the evolutionary necessity of these molecules for nervous system cell volume regulation, structure, and function, and their involvement in neurological disease.
Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis.
Kahle et al., Dayton, United States. In Front Cell Neurosci, 2014
Cell swelling triggers a coordinated homeostatic response termed regulatory volume decrease (RVD), resulting in K(+) and Cl(-) efflux via activation of K(+) channels, volume-regulated anion channels (VRACs), and the K(+)-Cl(-) cotransporters, including KCC3.
Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.
Delpire et al., Nashville, United States. In Behav Brain Res, 2014
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC or ACCPN) is an autosomal recessive disease caused by the disruption of the SLC12A6 gene, which encodes the K-Cl cotransporter-3 (KCC3).
SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
Chou et al., Tainan City, Taiwan. In Febs J, 2014
Ste20-related proline/alanine-rich kinase (SPAK) plays a role in regulating many biological activities, and interacts with K-Cl co-transporter 3 (KCC3); however, the importance of SPAK for KCC3 function has not been demonstrated.
The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.
Zhang et al., Dundee, United Kingdom. In Biochem J, 2014
Secondly, STOCK1S-50699, a WNK pathway inhibitor, suppresses SPAK/OSR1 activation and KCC3A Site-2 phosphorylation with similar efficiency.
[Pathophysiological aspects of K+: Cl- cotransporters].
Melo et al., Nueva San Salvador, El Salvador. In Rev Invest Clin, 2014
KCCs belong to the SLC12 (Solute Carrier Family 12) family of electroneutral cation-chloride cotransporters (CCC), and they are secondary active ion transporters because use the established gradients from the primary active transporter through the Na+/K+- ATPase.
The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.
Otsuji et al., Kyoto, Japan. In Biomed Res Int, 2013
The objectives of the present study were to investigate the role of K-Cl cotransporter 3 (KCC3) in the regulation of cellular invasion and the clinicopathological significance of its expression in esophageal squamous cell carcinoma (ESCC).
Molecular evidence for a role for K(+)-Cl(-) cotransporters in the kidney.
Gamba et al., Mexico. In Am J Physiol Renal Physiol, 2013
K(+)-Cl(-) cotransporter (KCC) isoforms 3 (KCC3) and 4 (KCC4) are expressed at the basolateral membrane of proximal convoluted tubule cells, and KCC4 is present in the basolateral membrane of the thick ascending loop of Henle's limb and α-intercalated cells of the collecting duct.
N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.
Gamba et al., Mexico. In J Biol Chem, 2013
Two phosphorylation sites (Thr-991 and Thr-1048) in KCC3 have been found to be critical for its regulation.
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.
Rouleau et al., Montréal, Canada. In Plos One, 2012
Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain.
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Caglayan et al., Ankara, Turkey. In Genet Couns, 2012
Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN).
Role of cholesterol in functional association between K(+)-Cl(-) cotransporter-3a and Na+,K(+)-ATPase.
GeneRIF
Sakai et al., Toyama, Japan. In Biochem Biophys Res Commun, 2012
these results suggest that cholesterol is essential for eliciting up-regulation of Na(+),K(+)-ATPase activity by KCC3a in the KCC3a-alpha1NaK complex.
KCC3-dependent chloride extrusion in adult sensory neurons.
GeneRIF
Scamps et al., Montpellier, France. In Mol Cell Neurosci, 2012
KCC3 contributes to Cl(-) extrusion in adult sensory neurons
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
GeneRIF
Rouleau et al., Montréal, Canada. In J Neurosci, 2012
Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit, while the auditory impairment is due to loss of non-neuronal KCC3 expression.
High-grade glioma motility reduced by genetic knockdown of KCC3.
GeneRIF
Gagnon, Nashville, United States. In Cell Physiol Biochem, 2011
Genetic silencing of KCC3 with short hairpin interfering RNA reduced protein expression by 40 - 60%, K(+) influx by ~50%, and cell motility by ~50%.
K-Cl cotransporter gene expression during human and murine erythroid differentiation.
GeneRIF
Joiner et al., Cincinnati, United States. In J Biol Chem, 2011
KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma.
Impact
Morgan et al., London, United Kingdom. In J Clin Oncol, 2011
RESULTS: We report TrPN associations with SNPs-ABCA1 (rs363717), ICAM1 (rs1799969), PPARD (rs2076169), SERPINB2 (rs6103), and SLC12A6 (rs7164902)-where we show cross validation of the associations in both trials.
Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Impact
GeneRIF
Lifton et al., New Haven, United States. In Cell, 2009
Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Impact
GeneRIF
Rouleau et al., Montréal, Canada. In Nat Genet, 2002
SLC12A6 has a role in the development and maintenance of the nervous system
share on facebooktweetadd +1mail to friends